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NM_015100.4(POGZ):c.2771dup (p.Gln925fs) AND Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

Germline classification:
Likely pathogenic (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003986011.1

Allele description [Variation Report for NM_015100.4(POGZ):c.2771dup (p.Gln925fs)]

NM_015100.4(POGZ):c.2771dup (p.Gln925fs)

Gene:
POGZ:pogo transposable element derived with ZNF domain [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_015100.4(POGZ):c.2771dup (p.Gln925fs)
HGVS:
  • NC_000001.11:g.151406266dup
  • NG_046601.1:g.58202dup
  • NM_001194937.2:c.2744dup
  • NM_001194938.2:c.2585dup
  • NM_001410860.1:c.2792dup
  • NM_015100.4:c.2771dupMANE SELECT
  • NM_145796.4:c.2486dup
  • NM_207171.2:c.2612dup
  • NP_001181866.1:p.Gln916fs
  • NP_001181867.1:p.Gln863fs
  • NP_001397789.1:p.Gln932fs
  • NP_055915.2:p.Gln925fs
  • NP_665739.3:p.Gln830fs
  • NP_997054.1:p.Gln872fs
  • NC_000001.10:g.151378742dup
Protein change:
Q830fs
Molecular consequence:
  • NM_001194937.2:c.2744dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001194938.2:c.2585dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001410860.1:c.2792dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015100.4:c.2771dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_145796.4:c.2486dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_207171.2:c.2612dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
Identifiers:
MONDO: MONDO:0014606; MedGen: C4225351; OMIM: 616364

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004801841Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicgermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, SCV004801841.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

A previously undescribed nucleotide variant creates a frameshift p.Gln925AlafsTer19 in the POGZ gene. The variant was observed in heterozygous state in an individual affected with congenital diaphragmatic hernia, cryptorchidiam and pneumothorax. Loss-of-function variants are reported in patients with White-Sutton syndrome, 616364. The variant is not present in population database (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2024